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Table 4 Variants called in agreement with Myriad results

From: Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

Variants

Clinical significance

Number of samples

BRCA1 c.5266dupC

Pathogenic

2

BRAC1 c.5095C>T

Pathogenic

1

BRCA1 c.3916_3917del

Pathogenic

1

BRCA2 c.6988A>G

VUS

1

BRCA2 c.8482A>G

VUS

1

BRCA2 c.8518A>G

VUS

1

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Human Genomics

ISSN: 1479-7364